Muscular dystrophy or MD can be defined as a disease group that manifests as progressive weakness and lack of healthy muscle mass.
What is Muscular Dystrophy?
Muscular dystrophy (MD) is actually a wider term for a group of muscle diseases that can ravage your musculature and development. It starts with a particular group of muscles and progresses to a wider set. When this disease affects the heart or muscles used for breathing, it can become life-threatening.
This group of diseases can be categorized into a number of different types:
- Duchenne’s muscular dystrophy (roughly 50% of cases)
The primary cause of this is gene mutation in those genes that control muscle protein production, thereby resulting in progressively less and less muscle power over time. Muscular dystrophy, as a genetic disorder, is typically inherited from an autosomal recessive gene from one parent (98% of cases), but it can also occur due to a gene mutation early in life.
The symptoms of muscular dystrophy begin to show themselves around the age of four, and possibly later in those rare cases that don’t inherit the mutation from their parents. They can vary between different types, both in severity and manifestation, but there are some general qualities.
Without muscle support to help the body operate, many different organ systems are affected:
- Poor skeletal strength
- Lack of balance and mobility
- Low respiratory ability
- Heart conditions
At a young age, between 2 and 3, early symptoms include:
- Frequent, unexplained falling
- Difficulty running
- Trouble standing up
- Large calf muscles
- Learning disabilities
- Waddling when walking
- Muscle spasms
- Limited range of motion/movement
- Progressive inability to walk unaided
If you see any of these signs, you should take your child to a doctor for DNA testing and a muscle biopsy, which can show if the key muscle protein commonly affected by this mutation, dystrophin, is missing.